SERPING1 — 854 ClinVar variants
All ClinVar germline SERPING1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →
261 Pathogenic · 10 Pathogenic/Likely pathogenic · 90 Likely pathogenic · 37 Conflicting · 39 Benign · 14 Benign/Likely benign · 162 Likely benign · 241 Uncertain significance
Full SERPING1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 253
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SERPING1 p.Asp408Gly
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
- SERPING1 p.Arg494Gln Likely pathogenic Single submitter
-
SERPING1 p.Ile196Asn
Likely pathogenic
Single submitter
angioedema
-
SERPING1 p.Ile274Val
Likely pathogenic
Single submitter
hereditary angioedema type 1
- SERPING1 p.Thr68Ile Pathogenic Single submitter
-
SERPING1 p.Tyr154Cys
Pathogenic
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Gln474His
Likely pathogenic
No assertion criteria
hereditary angioedema with C1Inh deficiency
-
SERPING1 p.Leu398Val
Likely pathogenic
No assertion criteria
hereditary angioedema with C1Inh deficiency
Predictors agree, ClinVar conflicts 25
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SERPING1 p.Ala185Asp
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Ala185Pro
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Ala257Thr
Conflicting
Single submitter
Inborn genetic diseases
-
SERPING1 p.Ala456Glu
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Arg466His
Conflicting
Single submitter
SERPING1-related disorder
- SERPING1 p.Asn166Lys Conflicting Single submitter
-
SERPING1 p.Asp39Glu
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Asp497Gly
Conflicting
Single submitter
hereditary angioedema type 1
- SERPING1 p.Gln485Glu Conflicting Single submitter
-
SERPING1 p.Ile357Asn
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Ile401Thr
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Leu151Pro
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Leu153Arg
Conflicting
Single submitter
hereditary angioedema type 1
- SERPING1 p.Leu197Pro Conflicting Single submitter
-
SERPING1 p.Leu287Pro
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Leu347Pro
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Met388Ile
Conflicting
Single submitter
Inborn genetic diseases
-
SERPING1 p.Phe303Ser
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Pro248Arg
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Pro66Leu
Conflicting
Single submitter
Inborn genetic diseases
- SERPING1 p.Ser21Phe Conflicting Single submitter
- SERPING1 p.Ser245Gly Conflicting Single submitter
- SERPING1 p.Thr214Ser Conflicting Single submitter
-
SERPING1 p.Thr76Ile
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Thr82Ser
Conflicting
Single submitter
hereditary angioedema type 1
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
SERPING1 c.685+1G>A
Conflicting
Single submitter
Inborn genetic diseases
-
SERPING1 p.Ter501Cys
Conflicting
Single submitter
hereditary angioedema type 1
Predictors lean, ClinVar uncertain 167
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 167
-
SERPING1 p.Ala333Thr
Uncertain significance
Multiple submitters
C1 inhibitor deficiency
-
SERPING1 p.Arg241Trp
Uncertain significance
Multiple submitters
hereditary angioedema type 1
- SERPING1 p.Arg499Ser Uncertain significance Multiple submitters
-
SERPING1 p.Asp144Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Asp424Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Gln180His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.His334Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SERPING1 p.His486Gln Uncertain significance Multiple submitters
-
SERPING1 p.Ile232Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Leu146Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Leu287Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Leu295Pro
Uncertain significance
Multiple submitters
hereditary angioedema type 1
-
SERPING1 p.Leu7Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Lys52Arg
Uncertain significance
Multiple submitters
C1 inhibitor deficiency
-
SERPING1 p.Met383Val
Uncertain significance
Multiple submitters
C1 inhibitor deficiency
- SERPING1 p.Ser255Thr Uncertain significance Multiple submitters
-
SERPING1 p.Thr214Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SERPING1 p.Thr404Arg Uncertain significance Multiple submitters
-
SERPING1 p.Thr404Met
Uncertain significance
Multiple submitters
C1 inhibitor deficiency
-
SERPING1 p.Thr405Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Tyr496Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Val288Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SERPING1 p.Ala140Gly Uncertain significance Single submitter
- SERPING1 p.Ala145Gly Uncertain significance Single submitter
- SERPING1 p.Ala175Thr Uncertain significance Single submitter
- SERPING1 p.Ala175Val Uncertain significance Single submitter
- SERPING1 p.Ala209Thr Uncertain significance Single submitter
- SERPING1 p.Ala20Gly Uncertain significance Single submitter
- SERPING1 p.Ala239Asp Uncertain significance Single submitter
- SERPING1 p.Ala239Val Uncertain significance Single submitter
- SERPING1 p.Ala257Gly Uncertain significance Single submitter
- SERPING1 p.Ala292Thr Uncertain significance Single submitter
- SERPING1 p.Ala333Ser Uncertain significance Single submitter
- SERPING1 p.Ala381Val Uncertain significance Single submitter
- SERPING1 p.Ala457Ser Uncertain significance Single submitter
- SERPING1 p.Ala459Thr Uncertain significance Single submitter
-
SERPING1 p.Ala461Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Ala461Thr Uncertain significance Single submitter
- SERPING1 p.Ala46Thr Uncertain significance Single submitter
- SERPING1 p.Ala500Val Uncertain significance Single submitter
- SERPING1 p.Ala80Val Uncertain significance Single submitter
- SERPING1 p.Arg19Ile Uncertain significance Single submitter
- SERPING1 p.Arg233Thr Uncertain significance Single submitter
- SERPING1 p.Arg241Gln Uncertain significance Single submitter
- SERPING1 p.Arg249Gly Uncertain significance Single submitter
- SERPING1 p.Arg276Gln Uncertain significance Single submitter
-
SERPING1 p.Arg286Gly
Uncertain significance
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Arg286Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Asn254Ser Uncertain significance Single submitter
- SERPING1 p.Asn272Thr Uncertain significance Single submitter
- SERPING1 p.Asn317Thr Uncertain significance Single submitter
-
SERPING1 p.Asn73Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Asn81Asp Uncertain significance Single submitter
-
SERPING1 p.Asp132Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Asp144Val Uncertain significance Single submitter
- SERPING1 p.Asp279Glu Uncertain significance Single submitter
- SERPING1 p.Asp284Asn Uncertain significance Single submitter
- SERPING1 p.Asp420Asn Uncertain significance Single submitter
-
SERPING1 p.Asp435Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Asp435Gly Uncertain significance Single submitter
- SERPING1 p.Asp497Asn Uncertain significance Single submitter
- SERPING1 p.Cys123Ser Uncertain significance Single submitter
- SERPING1 p.Cys130Phe Uncertain significance Single submitter
- SERPING1 p.Cys130Trp Uncertain significance Single submitter
- SERPING1 p.Gln108Glu Uncertain significance Single submitter
- SERPING1 p.Gln116His Uncertain significance Single submitter
-
SERPING1 p.Gln223Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Gln32Glu Uncertain significance Single submitter
- SERPING1 p.Gln38Glu Uncertain significance Single submitter
-
SERPING1 p.Gln442Glu
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Gln484Glu Uncertain significance Single submitter
- SERPING1 p.Glu187Lys Uncertain significance Single submitter
- SERPING1 p.Glu194Gly Uncertain significance Single submitter
- SERPING1 p.Glu260Gly Uncertain significance Single submitter
- SERPING1 p.Glu311Gly Uncertain significance Single submitter
- SERPING1 p.Glu414Gly Uncertain significance Single submitter
- SERPING1 p.Glu93Lys Uncertain significance Single submitter
- SERPING1 p.Gly120Val Uncertain significance Single submitter
- SERPING1 p.Gly41Cys Uncertain significance Single submitter
- SERPING1 p.His136Arg Uncertain significance Single submitter
- SERPING1 p.His207Leu Uncertain significance Single submitter
-
SERPING1 p.His351Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.His351Tyr Uncertain significance Single submitter
- SERPING1 p.His365Tyr Uncertain significance Single submitter
- SERPING1 p.Ile174Val Uncertain significance Single submitter
- SERPING1 p.Ile224Val Uncertain significance Single submitter
- SERPING1 p.Ile382Phe Uncertain significance Single submitter
- SERPING1 p.Ile401Phe Uncertain significance Single submitter
- SERPING1 p.Ile462Val Uncertain significance Single submitter
- SERPING1 p.Leu109Phe Uncertain significance Single submitter
- SERPING1 p.Leu10Phe Uncertain significance Single submitter
- SERPING1 p.Leu142Ser Uncertain significance Single submitter
- SERPING1 p.Leu261Phe Uncertain significance Single submitter
-
SERPING1 p.Leu277Val
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Leu349Arg Uncertain significance Single submitter
- SERPING1 p.Leu374Pro Uncertain significance Single submitter
- SERPING1 p.Leu37Ser Uncertain significance Single submitter
- SERPING1 p.Leu395Phe Uncertain significance Single submitter
- SERPING1 p.Leu395Val Uncertain significance Single submitter
- SERPING1 p.Leu396Gln Uncertain significance Single submitter
- SERPING1 p.Leu481Arg Uncertain significance Single submitter
- SERPING1 p.Lys161Arg Uncertain significance Single submitter
- SERPING1 p.Lys216Ile Uncertain significance Single submitter
- SERPING1 p.Lys268Arg Uncertain significance Single submitter
- SERPING1 p.Lys307Asn Uncertain significance Single submitter
- SERPING1 p.Lys487Arg Uncertain significance Single submitter
- SERPING1 p.Met167Thr Uncertain significance Single submitter
- SERPING1 p.Met310Thr Uncertain significance Single submitter
-
SERPING1 p.Met388Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Met413Val Uncertain significance Single submitter
- SERPING1 p.Met492Leu Uncertain significance Single submitter
- SERPING1 p.Met492Val Uncertain significance Single submitter
- SERPING1 p.Phe122Leu Uncertain significance Single submitter
- SERPING1 p.Phe236Cys Uncertain significance Single submitter
- SERPING1 p.Phe418Tyr Uncertain significance Single submitter
- SERPING1 p.Phe488Ile Uncertain significance Single submitter
- SERPING1 p.Pro117Leu Uncertain significance Single submitter
- SERPING1 p.Pro282Ser Uncertain significance Single submitter
- SERPING1 p.Pro312His Uncertain significance Single submitter
- SERPING1 p.Pro312Ser Uncertain significance Single submitter
- SERPING1 p.Pro34Ala Uncertain significance Single submitter
- SERPING1 p.Pro376Leu Uncertain significance Single submitter
- SERPING1 p.Pro399His Uncertain significance Single submitter
- SERPING1 p.Pro399Thr Uncertain significance Single submitter
-
SERPING1 p.Pro90Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPING1 p.Pro94Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPING1 p.Pro98Leu
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Ser113Pro Uncertain significance Single submitter
- SERPING1 p.Ser135Asn Uncertain significance Single submitter
- SERPING1 p.Ser150Pro Uncertain significance Single submitter
- SERPING1 p.Ser158Ala Uncertain significance Single submitter
- SERPING1 p.Ser158Leu Uncertain significance Single submitter
- SERPING1 p.Ser22Leu Uncertain significance Single submitter
-
SERPING1 p.Ser247Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Ser29Cys Uncertain significance Single submitter
- SERPING1 p.Ser318Leu Uncertain significance Single submitter
- SERPING1 p.Ser389Phe Uncertain significance Single submitter
- SERPING1 p.Ser63Cys Uncertain significance Single submitter
- SERPING1 p.Ser63Phe Uncertain significance Single submitter
- SERPING1 p.Ser64Gly Uncertain significance Single submitter
-
SERPING1 p.Thr119Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Thr179Ser Uncertain significance Single submitter
-
SERPING1 p.Thr219Ile
Uncertain significance
Single submitter
angioedema
-
SERPING1 p.Thr235Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Thr242Ile Uncertain significance Single submitter
- SERPING1 p.Thr264Ser Uncertain significance Single submitter
- SERPING1 p.Thr270Ala Uncertain significance Single submitter
- SERPING1 p.Thr394Pro Uncertain significance Single submitter
- SERPING1 p.Thr445Ala Uncertain significance Single submitter
- SERPING1 p.Thr47Ala Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- SERPING1 p.Leu197Val Uncertain significance Multiple submitters
-
SERPING1 p.Met492Thr
Uncertain significance
Multiple submitters
angioedema
-
SERPING1 p.Phe477Leu
Pathogenic
Multiple submitters
hereditary angioedema type 1
-
SERPING1 p.Pro498Leu
Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Thr95Ile
Likely benign
Multiple submitters
Inborn genetic diseases
-
SERPING1 p.Val470Asp
Uncertain significance
Multiple submitters
hereditary angioedema type 1
-
SERPING1 p.Val473Met
Pathogenic
Multiple submitters
hereditary angioedema type 1
-
SERPING1 p.Ala2Val
Conflicting
Single submitter
C1 inhibitor deficiency
- SERPING1 p.Ala333Pro Uncertain significance Single submitter
- SERPING1 p.Ala456Val Uncertain significance Single submitter
- SERPING1 p.Ala465Val Uncertain significance Single submitter
-
SERPING1 p.Ala80Gly
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Arg276Trp Conflicting Single submitter
- SERPING1 p.Arg286Cys Uncertain significance Single submitter
-
SERPING1 p.Arg400Cys
Uncertain significance
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Arg400His
Conflicting
Single submitter
Inborn genetic diseases
- SERPING1 p.Arg400Pro Uncertain significance Single submitter
-
SERPING1 p.Asn166Thr
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Asn258Ile Uncertain significance Single submitter
-
SERPING1 p.Asn291His
Conflicting
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Asn291Ser
Uncertain significance
Single submitter
hereditary angioedema type 1
- SERPING1 p.Asp304His Uncertain significance Single submitter
- SERPING1 p.Asp304Val Uncertain significance Single submitter
- SERPING1 p.Asp420Gly Uncertain significance Single submitter
- SERPING1 p.Ile224Phe Uncertain significance Single submitter
-
SERPING1 p.Ile293Ser
Likely pathogenic
Single submitter
Hereditary angioedema types I and II
-
SERPING1 p.Ile293Thr
Likely pathogenic
Single submitter
hereditary angioedema type 1
-
SERPING1 p.Leu153Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPING1 p.Leu193Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Leu197Phe Uncertain significance Single submitter
- SERPING1 p.Leu290Phe Uncertain significance Single submitter
- SERPING1 p.Leu427Val Uncertain significance Single submitter
- SERPING1 p.Lys328Asn Uncertain significance Single submitter
- SERPING1 p.Lys329Asn Uncertain significance Single submitter
-
SERPING1 p.Met409Thr
Pathogenic
Single submitter
hereditary angioedema type 1
- SERPING1 p.Phe419Leu Uncertain significance Single submitter
- SERPING1 p.Phe421Ile Uncertain significance Single submitter
- SERPING1 p.Pro323Leu Likely benign Single submitter
- SERPING1 p.Pro360Ser Uncertain significance Single submitter
- SERPING1 p.Ser131Cys Uncertain significance Single submitter
- SERPING1 p.Ser158Pro Uncertain significance Single submitter
- SERPING1 p.Ser173Asn Uncertain significance Single submitter
- SERPING1 p.Ser222Phe Uncertain significance Single submitter
- SERPING1 p.Ser280Cys Uncertain significance Single submitter
-
SERPING1 p.Thr103Ile
Likely benign
Single submitter
Inborn genetic diseases
- SERPING1 p.Thr219Pro Uncertain significance Single submitter
-
SERPING1 p.Thr96Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPING1 p.Val250Asp Likely benign Single submitter
- SERPING1 p.Val359Ala Uncertain significance Single submitter
-
SERPING1 p.Ile462Ser
Pathogenic
No assertion criteria
hereditary angioedema type 1
-
SERPING1 p.Val446Glu
Uncertain significance
No assertion criteria
SERPING1-related disorder
All SERPING1 variants
Pathogenic 261
- c.1030-1G>T Multiple submitters hereditary angioedema type 1
- c.51+1G>T Multiple submitters hereditary angioedema type 1
- c.51+3A>G Multiple submitters Inborn genetic diseases
- c.52-1G>A Multiple submitters hereditary angioedema type 1
- c.550+1G>A Multiple submitters hereditary angioedema type 1
- c.551-2A>G Multiple submitters SERPING1-related disorder
- p.Arg466Cys Multiple submitters SERPING1-related disorder
- p.Arg466Gly Multiple submitters SERPING1-related disorder
- p.Arg494Ter Multiple submitters SERPING1-related disorder
- p.Gln223Ter Multiple submitters hereditary angioedema type 1
- p.Gln437Ter Multiple submitters hereditary angioedema type 1
- p.Gln474Ter Multiple submitters hereditary angioedema type 1
- p.Gln484Ter Multiple submitters hereditary angioedema type 1
- p.Glu451fs Multiple submitters hereditary angioedema type 1
- p.His314fs Multiple submitters
- p.Leu243Pro Multiple submitters hereditary angioedema type 1
- p.Lys201fs Multiple submitters hereditary angioedema type 1
- p.Lys329Ter Multiple submitters SERPING1-related disorder
- p.Met1Thr Multiple submitters SERPING1-related disorder
- p.Met1Val Multiple submitters hereditary angioedema type 1
- p.Phe477Leu Multiple submitters hereditary angioedema type 1 ⚠
- p.Phe55fs Multiple submitters hereditary angioedema type 1
- p.Pro399Ser Multiple submitters angioedema
- p.Ser283fs Multiple submitters hereditary angioedema type 1
- p.Ser36fs Multiple submitters hereditary angioedema type 1
- p.Thr128fs Multiple submitters angioedema
- p.Trp299Ter Multiple submitters
- p.Val332fs Multiple submitters
- p.Val473Met Multiple submitters hereditary angioedema type 1 ⚠
- c.1029+1del Single submitter hereditary angioedema type 1
- c.1029+384A>G Single submitter hereditary angioedema type 1
- c.1030-1G>A Single submitter
- c.1030-1G>C Single submitter hereditary angioedema type 1
- c.1030delG Single submitter hereditary angioedema type 1
- c.1249+1G>A Single submitter hereditary angioedema type 1
- c.1249+2T>G Single submitter hereditary angioedema type 1
- c.1250-1G>A Single submitter hereditary angioedema type 1
- c.1250-1G>C Single submitter
- c.1250-2A>C Single submitter
- c.51+1G>A Single submitter
- c.51+1G>C Single submitter
- c.52-2A>G Single submitter hereditary angioedema type 1
- c.550+1G>C Single submitter hereditary angioedema type 1
- c.550+2T>A Single submitter hereditary angioedema type 1
- c.550+2T>C Single submitter
- c.550+5G>A Single submitter hereditary angioedema type 1
- c.551-2del Single submitter
- c.685+1del Single submitter hereditary angioedema type 1
- c.685+1G>T Single submitter
- c.685+2T>A Single submitter
- c.685+2T>G Single submitter
- c.686-12A>G Single submitter hereditary angioedema type 1
- c.686-1G>A Single submitter hereditary angioedema type 1
- c.686-1G>C Single submitter
- c.889+1G>A Single submitter
- c.990_1029+16del Single submitter hereditary angioedema type 1
- c.-161A>G Single submitter hereditary angioedema type 1
- c.-22-155G>T Single submitter hereditary angioedema type 1
- c.-22-1G>A Single submitter hereditary angioedema type 1
- p.Ala175fs Single submitter angioedema
- p.Ala209fs Single submitter hereditary angioedema type 1
- p.Ala458Val Single submitter hereditary angioedema type 1
- p.Ala459Asp Single submitter hereditary angioedema type 1
- p.Ala459Pro Single submitter hereditary angioedema type 1
- p.Ala461fs Single submitter
- p.Ala46fs Single submitter angioedema
- p.Arg19Ter Single submitter hereditary angioedema type 1
- p.Arg241fs Single submitter
- p.Arg249fs Single submitter hereditary angioedema type 1
- p.Arg286fs Single submitter
- p.Arg309Ter Single submitter hereditary angioedema type 1
- p.Arg400fs Single submitter
- p.Arg466Pro Single submitter
- p.Asn166fs Single submitter
- p.Asn238fs Single submitter
- p.Asn23fs Single submitter
- p.Asn258fs Single submitter hereditary angioedema type 1
- p.Asn271fs Single submitter
- p.Asn272fs Single submitter Hereditary angioedema types I and II
- p.Asn317fs Single submitter hereditary angioedema type 1
- p.Asn326fs Single submitter hereditary angioedema type 1
- p.Asn426fs Single submitter
- p.Asn73fs Single submitter
- p.Asp144fs Single submitter hereditary angioedema type 1
- p.Asp234fs Single submitter
- p.Asp369fs Single submitter hereditary angioedema type 1
- p.Asp39fs Single submitter hereditary angioedema type 1
- p.Cys205Arg Single submitter hereditary angioedema type 1
- p.Cys205Tyr Single submitter
- p.Cys428Tyr Single submitter
- p.Gln101Ter Single submitter hereditary angioedema type 1
- p.Gln104fs Single submitter hereditary angioedema type 1
- p.Gln104Ter Single submitter hereditary angioedema type 1
- p.Gln108Ter Single submitter
- p.Gln116fs Single submitter hereditary angioedema type 1
- p.Gln116Ter Single submitter hereditary angioedema type 1
- p.Gln180fs Single submitter hereditary angioedema type 1
- p.Gln180Ter Single submitter hereditary angioedema type 1
- p.Gln208Ter Single submitter hereditary angioedema type 1
- p.Gln223fs Single submitter hereditary angioedema type 1
- p.Gln338fs Single submitter
- p.Gln338Ter Single submitter hereditary angioedema type 1
- p.Gln346Ter Single submitter hereditary angioedema type 1
- p.Gln348Ter Single submitter
- p.Gln361Ter Single submitter
- p.Gln392Ter Single submitter
- p.Gln442Ter Single submitter hereditary angioedema type 1
- p.Gln475Ter Single submitter hereditary angioedema type 1
- p.Gln89fs Single submitter
- p.Glu134Ter Single submitter
- p.Glu139Ter Single submitter hereditary angioedema type 1
- p.Glu260fs Single submitter hereditary angioedema type 1
- p.Glu311fs Single submitter
- p.Glu371fs Single submitter hereditary angioedema type 1
- p.Glu42Ter Single submitter hereditary angioedema type 1
- p.Glu432fs Single submitter hereditary angioedema type 1
- p.Glu448Ter Single submitter
- p.Gly125Ter Single submitter hereditary angioedema type 1
- p.Gly184Trp Single submitter
- p.Gly345Arg Single submitter
- p.Gly345Glu Single submitter
- p.Gly41fs Single submitter hereditary angioedema type 1
- p.Gly493Glu Single submitter hereditary angioedema type 1
- p.His136fs Single submitter hereditary angioedema type 1
- p.His334fs Single submitter
- p.His443Arg Single submitter hereditary angioedema type 1
- p.Ile196fs Single submitter hereditary angioedema type 1
- p.Ile412fs Single submitter hereditary angioedema type 1
- p.Leu109fs Single submitter
- p.Leu146fs Single submitter hereditary angioedema type 1
- p.Leu15fs Single submitter hereditary angioedema type 1
- p.Leu193Pro Single submitter hereditary angioedema type 1
- p.Leu230Pro Single submitter hereditary angioedema type 1
- p.Leu287Arg Single submitter hereditary angioedema type 1
- p.Leu290del Single submitter hereditary angioedema type 1
- p.Leu355fs Single submitter
- p.Leu358fs Single submitter
- p.Leu37fs Single submitter hereditary angioedema type 1
- p.Leu395_Leu396insTer Single submitter hereditary angioedema with C1Inh deficiency
- p.Leu398Arg Single submitter hereditary angioedema type 1
- p.Leu416Ter Single submitter hereditary angioedema type 1
- p.Leu430Arg Single submitter hereditary angioedema type 1
- p.Leu430Gln Single submitter hereditary angioedema type 1
- p.Leu430Pro Single submitter hereditary angioedema type 1
- p.Leu481Pro Single submitter hereditary angioedema type 1
- p.Leu60fs Single submitter
- p.Leu65fs Single submitter hereditary angioedema type 1
- p.Lys152fs Single submitter
- p.Lys306fs Single submitter
- p.Lys329fs Single submitter
- p.Lys380fs Single submitter
- p.Lys385Ter Single submitter hereditary angioedema type 1
- p.Lys390fs Single submitter
- p.Lys415Ter Single submitter
- p.Lys44Ter Single submitter hereditary angioedema type 1
- p.Lys487Ter Single submitter
- p.Met1Arg Single submitter
- p.Met1Leu Single submitter hereditary angioedema type 1
- p.Met324Arg Single submitter hereditary angioedema type 1
- p.Met325delinsAlaAlaTer Single submitter
- p.Met409Thr Single submitter hereditary angioedema type 1 ⚠
- p.Phe157fs Single submitter hereditary angioedema type 1
- p.Phe172fs Single submitter hereditary angioedema type 1
- p.Phe225Ser Single submitter hereditary angioedema type 1
- p.Phe225Ter Single submitter hereditary angioedema type 1
- p.Phe236Ser Single submitter hereditary angioedema type 1
- p.Phe236Val Single submitter hereditary angioedema type 1
- p.Phe477Ser Single submitter hereditary angioedema type 1
- p.Pro102fs Single submitter
- p.Pro105fs Single submitter hereditary angioedema type 1
- p.Pro110fs Single submitter hereditary angioedema type 1
- p.Pro34fs Single submitter
- p.Pro399Arg Single submitter hereditary angioedema type 1
- p.Pro399Leu Single submitter
- p.Pro476Leu Single submitter
- p.Pro489Arg Single submitter hereditary angioedema type 1
- p.Pro498Arg Single submitter hereditary angioedema type 1
- p.Pro498Ser Single submitter hereditary angioedema type 1
- p.Ser131fs Single submitter hereditary angioedema type 1
- p.Ser135fs Single submitter
- p.Ser150Phe Single submitter hereditary angioedema type 1
- p.Ser158Ter Single submitter hereditary angioedema type 1
- p.Ser170fs Single submitter hereditary angioedema type 1
- p.Ser170Pro Single submitter
- p.Ser195fs Single submitter hereditary angioedema type 1
- p.Ser222fs Single submitter hereditary angioedema type 1
- p.Ser22fs Single submitter hereditary angioedema type 1
- p.Ser245fs Single submitter Inborn genetic diseases
- p.Ser28fs Single submitter hereditary angioedema type 1
- p.Ser3fs Single submitter hereditary angioedema type 1
- p.Ser406fs Single submitter hereditary angioedema type 1
- p.Ser422_Tyr423insTer Single submitter hereditary angioedema type 1
- p.Ser422fs Single submitter hereditary angioedema type 1
- p.Ser70fs Single submitter hereditary angioedema type 1
- p.Ser74Ter Single submitter
- p.Thr115fs Single submitter hereditary angioedema type 1
- p.Thr119fs Single submitter
- p.Thr242fs Single submitter hereditary angioedema type 1
- p.Thr270fs Single submitter hereditary angioedema type 1
- p.Thr27fs Single submitter hereditary angioedema type 1
- p.Thr301fs Single submitter
- p.Thr302del Single submitter
- p.Thr394fs Single submitter hereditary angioedema type 1
- p.Thr397fs Single submitter hereditary angioedema type 1
- p.Thr450_Glu451insAsnTer Single submitter hereditary angioedema type 1
- p.Thr68fs Single submitter
- p.Thr68Ile Single submitter ⚠
- p.Thr96fs Single submitter hereditary angioedema type 1
- p.Trp265Arg Single submitter hereditary angioedema type 1
- p.Trp265Ter Single submitter hereditary angioedema type 1
- p.Trp482Ter Single submitter
- p.Tyr154Cys Single submitter hereditary angioedema type 1 ⚠
- p.Tyr154Ter Single submitter
- p.Tyr199fs Single submitter hereditary angioedema type 1
- p.Tyr244Ter Single submitter hereditary angioedema type 1
- p.Tyr294Ter Single submitter hereditary angioedema type 1
- p.Val181fs Single submitter
- p.Val250_Leu251insTer Single submitter hereditary angioedema type 1
- p.Val319fs Single submitter hereditary angioedema type 1
- p.Val322fs Single submitter hereditary angioedema type 1
- p.Val378fs Single submitter hereditary angioedema type 1
- p.Val438fs Single submitter
- p.Val446fs Single submitter hereditary angioedema type 1
- p.Val454fs Single submitter
- p.Val56fs Single submitter
- c.1249+1G>T No assertion criteria hereditary angioedema type 1
- c.1249+2T>C No assertion criteria hereditary angioedema with C1Inh deficiency
- c.550+1G>T No assertion criteria hereditary angioedema with C1Inh deficiency
- c.550+745_685+308del No assertion criteria hereditary angioedema type 1
- c.890-1G>A No assertion criteria hereditary angioedema type 1
- p.Ala458Thr No assertion criteria hereditary angioedema type 2
- p.Arg466Ser No assertion criteria hereditary angioedema type 2
- p.Asn25fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Asn263fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Glu260Ter No assertion criteria SERPING1-related disorder
- p.Gly453delinsValTrp No assertion criteria hereditary angioedema type 2
- p.His351fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.His365fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Ile462Ser No assertion criteria hereditary angioedema type 1 ⚠
- p.Leu261fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Leu436fs No assertion criteria hereditary angioedema type 1
- p.Lys216delinsSerValSerTer No assertion criteria hereditary angioedema type 1
- p.Lys328fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Lys77_Ile78insTer No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Lys77Ter No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Phe213fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Phe225del No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Phe315fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Pro126fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Pro58fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Ser246fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Ser318fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Ser318Ter No assertion criteria hereditary angioedema type 1
- p.Thr111fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Thr339_Leu340insTer No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Thr67fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Tyr199Ter No assertion criteria hereditary angioedema type 1
- p.Tyr423Ter No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Val206fs No assertion criteria hereditary angioedema type 1
- p.Val250fs No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Val454Glu No assertion criteria hereditary angioedema type 2
Pathogenic/Likely pathogenic 10
- c.51+3A>C Multiple submitters hereditary angioedema type 1
- c.551-1G>C Multiple submitters hereditary angioedema type 1
- p.Asn272del Multiple submitters hereditary angioedema type 1
- p.Asp408Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu417Ter Multiple submitters
- p.Gly184Arg Multiple submitters hereditary angioedema type 1
- p.Gly493Arg Multiple submitters hereditary angioedema type 1
- p.Leu386fs Multiple submitters hereditary angioedema type 1
- p.Phe169Ser Multiple submitters hereditary angioedema type 1
- p.Phe313Leu Multiple submitters SERPING1-related disorder
Likely pathogenic 90
- c.686-2A>G Multiple submitters SERPING1-related disorder
- c.890-14C>G Multiple submitters SERPING1-related disorder
- p.Leu251Pro Multiple submitters hereditary angioedema type 1
- p.Leu398Pro Multiple submitters SERPING1-related disorder
- p.Pro171Leu Multiple submitters SERPING1-related disorder
- p.Pro498Leu Multiple submitters Inborn genetic diseases ⚠
- c.1029+1G>T Single submitter
- c.51+3A>T Single submitter
- c.51+5G>T Single submitter
- c.52-1G>C Single submitter
- c.551-1G>A Single submitter
- c.685+4dup Single submitter hereditary angioedema type 1
- c.-22-1G>T Single submitter SERPING1-related disorder
- c.-22-3C>G Single submitter hereditary angioedema type 1
- p.Ala292Pro Single submitter hereditary angioedema type 1
- p.Ala333Asp Single submitter hereditary angioedema type 1
- p.Ala373fs Single submitter SERPING1-related disorder
- p.Ala381fs Single submitter hereditary angioedema type 1
- p.Ala465fs Single submitter hereditary angioedema type 1
- p.Arg241Pro Single submitter hereditary angioedema type 1
- p.Arg466Leu Single submitter
- p.Arg494fs Single submitter hereditary angioedema type 1
- p.Arg494Gln Single submitter ⚠
- p.Asp304Gly Single submitter SERPING1-related disorder
- p.Cys205Trp Single submitter
- p.Gln346_Ser350del Single submitter hereditary angioedema type 1
- p.Gln442fs Single submitter hereditary angioedema type 1
- p.Glu164_Met167del Single submitter hereditary angioedema type 1
- p.Glu451Gly Single submitter hereditary angioedema type 1
- p.Gly17fs Single submitter SERPING1-related disorder
- p.Gly429_Leu430insTer Single submitter hereditary angioedema type 1
- p.Gly453fs Single submitter hereditary angioedema type 1
- p.His207Arg Single submitter hereditary angioedema type 1
- p.His334Pro Single submitter hereditary angioedema type 1
- p.His486fs Single submitter
- p.Ile196Asn Single submitter angioedema ⚠
- p.Ile274Val Single submitter hereditary angioedema type 1 ⚠
- p.Ile293Ser Single submitter Hereditary angioedema types I and II ⚠
- p.Ile293Thr Single submitter hereditary angioedema type 1 ⚠
- p.Ile50fs Single submitter hereditary angioedema type 1
- p.Leu12Arg Single submitter hereditary angioedema type 1
- p.Leu353fs Single submitter SERPING1-related disorder
- p.Leu353Pro Single submitter angioedema
- p.Leu396Arg Single submitter Inborn genetic diseases
- p.Leu396Pro Single submitter
- p.Leu398_Pro399insLeu Single submitter hereditary angioedema type 1
- p.Leu410Pro Single submitter hereditary angioedema type 1
- p.Leu416delinsCysSerGlnIleMet Single submitter hereditary angioedema type 1
- p.Leu427Pro Single submitter hereditary angioedema type 1
- p.Leu430fs Single submitter hereditary angioedema type 1
- p.Leu449Pro Single submitter SERPING1-related disorder
- p.Lys328_Val332delinsMet Single submitter
- p.Lys341Ter Single submitter SERPING1-related disorder
- p.Met324Lys Single submitter hereditary angioedema type 1
- p.Met370_Gln372delinsAspAlaLeuSerProSerValPheLysAlaIleMetGluLysLeu Single submitter hereditary angioedema type 1
- p.Met370Arg Single submitter Hereditary angioedema types I and II
- p.Met370Lys Single submitter hereditary angioedema type 1
- p.Met413Arg Single submitter hereditary angioedema type 1
- p.Met441fs Single submitter hereditary angioedema type 1
- p.Phe471Ser Single submitter hereditary angioedema type 1
- p.Pro200Leu Single submitter hereditary angioedema type 1
- p.Pro399Ala Single submitter
- p.Pro489fs Single submitter SERPING1-related disorder
- p.Ser173Arg Single submitter hereditary angioedema type 1
- p.Ser176fs Single submitter SERPING1-related disorder
- p.Ser240Pro Single submitter hereditary angioedema type 1
- p.Ser327delinsValPro Single submitter
- p.Ser350Pro Single submitter hereditary angioedema type 1
- p.Ser460Pro Single submitter
- p.Ser460Tyr Single submitter hereditary angioedema type 1
- p.Thr189Asn Single submitter
- p.Thr235_Ser240del Single submitter hereditary angioedema type 1
- p.Thr264_Trp265insLeuAlaThr Single submitter hereditary angioedema type 1
- p.Thr270Asn Single submitter hereditary angioedema type 1
- p.Thr270Pro Single submitter hereditary angioedema type 1
- p.Tyr154Ser Single submitter
- p.Val266fs Single submitter C1 inhibitor deficiency
- p.Val332Gly Single submitter hereditary angioedema type 1
- p.Val464fs Single submitter hereditary angioedema type 1
- p.Val470fs Single submitter
- p.Val480Glu Single submitter hereditary angioedema type 1
- c.51+1del No assertion criteria angioedema
- p.Arg4fs No assertion criteria hereditary angioedema type 1
- p.Gln474His No assertion criteria hereditary angioedema with C1Inh deficiency ⚠
- p.Gln475His No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Gln475Pro No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Leu367Arg No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Leu398Val No assertion criteria hereditary angioedema with C1Inh deficiency ⚠
- p.Phe236Leu No assertion criteria hereditary angioedema with C1Inh deficiency
- p.Ser460Cys No assertion criteria hereditary angioedema with C1Inh deficiency
Conflicting classifications of pathogenicity 37
- c.52-5C>T Single submitter angioedema
- c.685+1G>A Single submitter Inborn genetic diseases ⚠
- c.686-20C>G Single submitter
- p.Ala185Asp Single submitter hereditary angioedema type 1 ⚠
- p.Ala185Pro Single submitter hereditary angioedema type 1 ⚠
- p.Ala257Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Val Single submitter C1 inhibitor deficiency ⚠
- p.Ala456Glu Single submitter hereditary angioedema type 1 ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg400His Single submitter Inborn genetic diseases ⚠
- p.Arg466His Single submitter SERPING1-related disorder ⚠
- p.Asn166Lys Single submitter ⚠
- p.Asn291His Single submitter hereditary angioedema type 1 ⚠
- p.Asp39Glu Single submitter hereditary angioedema type 1 ⚠
- p.Asp497Gly Single submitter hereditary angioedema type 1 ⚠
- p.Gln485Glu Single submitter ⚠
- p.Ile357Asn Single submitter hereditary angioedema type 1 ⚠
- p.Ile401Thr Single submitter hereditary angioedema type 1 ⚠
- p.Leu151Pro Single submitter hereditary angioedema type 1 ⚠
- p.Leu153Arg Single submitter hereditary angioedema type 1 ⚠
- p.Leu197Pro Single submitter ⚠
- p.Leu287Pro Single submitter hereditary angioedema type 1 ⚠
- p.Leu347Pro Single submitter hereditary angioedema type 1 ⚠
- p.Met388Ile Single submitter Inborn genetic diseases ⚠
- p.Phe303Ser Single submitter hereditary angioedema type 1 ⚠
- p.Pro110= Single submitter hereditary angioedema type 1
- p.Pro248Arg Single submitter hereditary angioedema type 1 ⚠
- p.Pro66Leu Single submitter Inborn genetic diseases ⚠
- p.Ser21Phe Single submitter ⚠
- p.Ser245Gly Single submitter ⚠
- p.Ser327= Single submitter hereditary angioedema type 1
- p.Ter501Cys Single submitter hereditary angioedema type 1 ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr76Ile Single submitter hereditary angioedema type 1 ⚠
- p.Thr82Ser Single submitter hereditary angioedema type 1 ⚠
- p.Thr95= Single submitter hereditary angioedema type 1
- p.Val266= Single submitter
Benign 39
- c.1029+312T>C Multiple submitters hereditary angioedema type 1
- c.1030-20A>G Multiple submitters hereditary angioedema type 1
- c.1250-282T>C Multiple submitters hereditary angioedema type 1
- c.51+101G>A Multiple submitters hereditary angioedema type 1
- c.52-130C>T Multiple submitters hereditary angioedema type 1
- c.551-155A>G Multiple submitters hereditary angioedema type 1
- c.551-495A>C Multiple submitters hereditary angioedema type 1
- c.551-500C>G Multiple submitters hereditary angioedema type 1
- c.685+88G>A Multiple submitters hereditary angioedema type 1
- p.Ser406= Multiple submitters hereditary angioedema type 1
- p.Thr118Ala Multiple submitters hereditary angioedema type 1
- p.Val56Ala Multiple submitters hereditary angioedema type 1
- c.1029+1443G>C Single submitter hereditary angioedema type 1
- c.1029+1497A>G Single submitter hereditary angioedema type 1
- c.1029+2110T>C Single submitter hereditary angioedema type 1
- c.1029+2111G>A Single submitter hereditary angioedema type 1
- c.1029+260G>A Single submitter hereditary angioedema type 1
- c.1029+851C>G Single submitter hereditary angioedema type 1
- c.1029+926G>T Single submitter hereditary angioedema type 1
- c.1030-1198G>T Single submitter hereditary angioedema type 1
- c.1030-1222A>G Single submitter hereditary angioedema type 1
- c.1030-1513del Single submitter hereditary angioedema type 1
- c.1030-1975G>C Single submitter hereditary angioedema type 1
- c.1030-865C>T Single submitter hereditary angioedema type 1
- c.1250-538T>C Single submitter hereditary angioedema type 1
- c.51+612GT[8] Single submitter hereditary angioedema type 1
- c.52-16G>A Single submitter
- c.52-696C>T Single submitter hereditary angioedema type 1
- c.551-155_551-154del Single submitter
- c.551-156A>G Single submitter hereditary angioedema type 1
- c.551-162_551-154del Single submitter
- c.551-16C>G Single submitter
- c.685+1100C>T Single submitter hereditary angioedema type 1
- c.685+315T>C Single submitter
- c.686-1565G>A Single submitter hereditary angioedema type 1
- c.686-1572G>T Single submitter hereditary angioedema type 1
- c.686-957A>G Single submitter hereditary angioedema type 1
- c.-24G>C Single submitter hereditary angioedema type 1
- p.Thr9Pro Single submitter
Benign/Likely benign 14
- c.1029+5G>T Multiple submitters hereditary angioedema type 1
- c.1250-154C>G Multiple submitters hereditary angioedema type 1
- c.686-9T>C Multiple submitters hereditary angioedema type 1
- c.-21T>C Multiple submitters hereditary angioedema type 1
- p.Ala156= Multiple submitters Inborn genetic diseases
- p.Gly17= Multiple submitters hereditary angioedema type 1
- p.Gly43= Multiple submitters Inborn genetic diseases
- p.His155= Multiple submitters hereditary angioedema type 1
- p.Leu151= Multiple submitters Inborn genetic diseases
- p.Leu251= Multiple submitters hereditary angioedema type 1
- p.Ser283= Multiple submitters hereditary angioedema type 1
- p.Thr48Ala Multiple submitters hereditary angioedema type 1
- p.Val480Met Multiple submitters Inborn genetic diseases
- p.Pro94fs No assertion criteria
Likely benign 162
- c.550+8C>T Multiple submitters
- c.550+9C>G Multiple submitters hereditary angioedema type 1
- c.686-5C>G Multiple submitters hereditary angioedema type 1
- p.Ala140= Multiple submitters
- p.Asn69= Multiple submitters
- p.Asp256= Multiple submitters Inborn genetic diseases
- p.Gln116= Multiple submitters Inborn genetic diseases
- p.Gln474= Multiple submitters Inborn genetic diseases
- p.Glu134= Multiple submitters Inborn genetic diseases
- p.Glu57Lys Multiple submitters hereditary angioedema type 1
- p.Glu93= Multiple submitters Inborn genetic diseases
- p.Gly41= Multiple submitters Inborn genetic diseases
- p.Leu478= Multiple submitters hereditary angioedema type 1
- p.Lys201= Multiple submitters Inborn genetic diseases
- p.Phe55= Multiple submitters Inborn genetic diseases
- p.Pro66= Multiple submitters
- p.Ser460= Multiple submitters Inborn genetic diseases
- p.Thr47= Multiple submitters Inborn genetic diseases
- p.Thr72= Multiple submitters
- p.Thr95Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val181= Multiple submitters Inborn genetic diseases
- p.Val237= Multiple submitters
- p.Val45Phe Multiple submitters
- c.1029+14C>A Single submitter
- c.1029+14C>T Single submitter
- c.1029+15T>C Single submitter
- c.1029+19C>T Single submitter
- c.1029+84G>A Single submitter
- c.1249+12C>A Single submitter
- c.1249+13A>G Single submitter
- c.1249+15C>T Single submitter
- c.1249+20G>A Single submitter
- c.1250-10T>G Single submitter
- c.1250-11T>G Single submitter
- c.1250-12G>A Single submitter
- c.1250-33T>A Single submitter
- c.1250-4C>T Single submitter
- c.51+13T>G Single submitter
- c.51+19G>A Single submitter
- c.52-9G>C Single submitter
- c.550+11G>A Single submitter
- c.550+20C>A Single submitter
- c.550+20C>T Single submitter
- c.551-10T>G Single submitter
- c.551-15T>C Single submitter
- c.551-17T>A Single submitter
- c.551-8T>C Single submitter
- c.685+13G>A Single submitter
- c.685+15A>G Single submitter
- c.686-11_686-10insTTG Single submitter
- c.686-1333A>T Single submitter hereditary angioedema type 1
- c.686-1335T>A Single submitter hereditary angioedema type 1
- c.686-1488_686-1487insT Single submitter hereditary angioedema type 1
- c.686-179A>G Single submitter hereditary angioedema type 1
- c.686-17dup Single submitter
- c.686-18T>C Single submitter
- c.686-7C>T Single submitter
- c.889+11C>A Single submitter
- c.889+18C>T Single submitter
- c.889+8T>C Single submitter
- c.889+8T>G Single submitter
- c.890-11C>T Single submitter
- c.890-12T>C Single submitter
- c.890-20C>T Single submitter
- c.-22-8C>T Single submitter
- c.-23+30G>A Single submitter hereditary angioedema type 1
- p.Ala156Thr Single submitter
- p.Ala168= Single submitter Inborn genetic diseases
- p.Ala2= Single submitter
- p.Ala209= Single submitter
- p.Ala381= Single submitter
- p.Ala440= Single submitter
- p.Ala440Val Single submitter
- p.Ala456= Single submitter
- p.Ala465= Single submitter
- p.Arg241= Single submitter
- p.Arg276= Single submitter
- p.Arg366Cys Single submitter
- p.Arg366His Single submitter
- p.Arg499= Single submitter
- p.Asn238= Single submitter
- p.Asn254= Single submitter
- p.Asn362Lys Single submitter
- p.Asp132= Single submitter
- p.Asp424= Single submitter
- p.Gln101= Single submitter
- p.Gln346= Single submitter
- p.Gln437= Single submitter
- p.Glu139= Single submitter
- p.Glu311= Single submitter
- p.Glu368= Single submitter
- p.Glu371= Single submitter
- p.Glu42Lys Single submitter
- p.Glu432= Single submitter
- p.Glu451= Single submitter
- p.Glu57= Single submitter
- p.Gly143= Single submitter
- p.Gly345= Single submitter
- p.Ile174= Single submitter
- p.Ile196= Single submitter
- p.Ile412= Single submitter
- p.Leu11= Single submitter
- p.Leu146= Single submitter
- p.Leu153= Single submitter
- p.Leu210= Single submitter
- p.Leu349Phe Single submitter
- p.Leu37= Single submitter
- p.Leu386= Single submitter
- p.Leu395= Single submitter
- p.Leu398= Single submitter
- p.Leu416= Single submitter
- p.Leu425Phe Single submitter
- p.Leu468= Single submitter
- p.Leu5= Single submitter Inborn genetic diseases
- p.Lys162= Single submitter
- p.Lys307= Single submitter
- p.Phe419= Single submitter
- p.Phe479= Single submitter Inborn genetic diseases
- p.Phe488= Single submitter
- p.Pro102= Single submitter
- p.Pro200= Single submitter
- p.Pro282= Single submitter
- p.Pro312= Single submitter
- p.Pro312Arg Single submitter
- p.Pro323Leu Single submitter ⚠
- p.Pro331= Single submitter
- p.Pro393= Single submitter
- p.Pro399= Single submitter
- p.Ser173= Single submitter
- p.Ser227= Single submitter
- p.Ser247= Single submitter
- p.Ser36= Single submitter
- p.Ser389= Single submitter Inborn genetic diseases
- p.Ser51= Single submitter
- p.Ser64Thr Single submitter
- p.Ser70= Single submitter
- p.Thr103= Single submitter
- p.Thr103Ile Single submitter Inborn genetic diseases ⚠
- p.Thr138= Single submitter
- p.Thr204Ser Single submitter
- p.Thr214= Single submitter
- p.Thr214Met Single submitter
- p.Thr219= Single submitter
- p.Thr235= Single submitter
- p.Thr404= Single submitter
- p.Thr405= Single submitter
- p.Thr450= Single submitter
- p.Thr76= Single submitter
- p.Thr83= Single submitter
- p.Thr9= Single submitter
- p.Thr95Pro Single submitter
- p.Tyr154= Single submitter
- p.Tyr330= Single submitter
- p.Val250Asp Single submitter ⚠
- p.Val322= Single submitter
- p.Val332= Single submitter
- p.Val378= Single submitter
- p.Val446Met Single submitter
- c.-104C>T No assertion criteria SERPING1-related disorder
- c.-168G>A No assertion criteria SERPING1-related disorder
- c.-96A>C No assertion criteria SERPING1-related disorder
- c.-99delC No assertion criteria SERPING1-related disorder
Uncertain significance 241
- c.-100C>G Multiple submitters hereditary angioedema type 1
- c.-99C>G Multiple submitters hereditary angioedema type 1
- p.Ala333Thr Multiple submitters C1 inhibitor deficiency ⚠
- p.Arg241Trp Multiple submitters hereditary angioedema type 1 ⚠
- p.Arg499Ser Multiple submitters ⚠
- p.Asp144Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp424Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln180His Multiple submitters Inborn genetic diseases ⚠
- p.His334Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His486Gln Multiple submitters ⚠
- p.Ile232Lys Multiple submitters Inborn genetic diseases ⚠
- p.Leu146Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu197Val Multiple submitters ⚠
- p.Leu287Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu295Pro Multiple submitters hereditary angioedema type 1 ⚠
- p.Leu7Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys52Arg Multiple submitters C1 inhibitor deficiency ⚠
- p.Met383Val Multiple submitters C1 inhibitor deficiency ⚠
- p.Met492Thr Multiple submitters angioedema ⚠
- p.Ser255Thr Multiple submitters ⚠
- p.Thr214Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr404Arg Multiple submitters ⚠
- p.Thr404Met Multiple submitters C1 inhibitor deficiency ⚠
- p.Thr405Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr496Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val288Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val470Asp Multiple submitters hereditary angioedema type 1 ⚠
- c.1029+4A>C Single submitter
- c.1250-3T>G Single submitter
- c.51+4T>C Single submitter
- c.52-3C>T Single submitter
- c.52-5CA[4] Single submitter
- c.551-3C>G Single submitter
- c.685+5G>A Single submitter
- c.685+6T>C Single submitter
- c.686-7C>G Single submitter
- c.686-8_686-7insGGCAA Single submitter
- c.889+3A>G Single submitter
- c.889+81G>C Single submitter hereditary angioedema type 1
- c.890-15_890-14insG Single submitter
- c.-105C>A Single submitter hereditary angioedema type 1
- c.-36A>T Single submitter hereditary angioedema type 1
- c.-56T>G Single submitter hereditary angioedema type 1
- c.-94C>G Single submitter hereditary angioedema type 1
- c.*10G>A Single submitter Inborn genetic diseases
- c.*66T>C Single submitter hereditary angioedema type 1
- p.67TTNS[1] Single submitter
- p.Ala140Gly Single submitter ⚠
- p.Ala145Gly Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala20Gly Single submitter ⚠
- p.Ala239Asp Single submitter ⚠
- p.Ala239Val Single submitter ⚠
- p.Ala257Gly Single submitter ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala333Pro Single submitter ⚠
- p.Ala333Ser Single submitter ⚠
- p.Ala381Val Single submitter ⚠
- p.Ala456Val Single submitter ⚠
- p.Ala457Ser Single submitter ⚠
- p.Ala459Thr Single submitter ⚠
- p.Ala461Ser Single submitter Inborn genetic diseases ⚠
- p.Ala461Thr Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala500Val Single submitter ⚠
- p.Ala80Gly Single submitter hereditary angioedema type 1 ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg19Ile Single submitter ⚠
- p.Arg233Thr Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg249Gly Single submitter ⚠
- p.Arg276Gln Single submitter ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg286Gly Single submitter hereditary angioedema type 1 ⚠
- p.Arg286Pro Single submitter Inborn genetic diseases ⚠
- p.Arg400Cys Single submitter hereditary angioedema type 1 ⚠
- p.Arg400Pro Single submitter ⚠
- p.Asn166Thr Single submitter hereditary angioedema type 1 ⚠
- p.Asn238_Ala239delinsSer Single submitter Inborn genetic diseases
- p.Asn254Ser Single submitter ⚠
- p.Asn258Ile Single submitter ⚠
- p.Asn272Thr Single submitter ⚠
- p.Asn291Ser Single submitter hereditary angioedema type 1 ⚠
- p.Asn317Thr Single submitter ⚠
- p.Asn73Asp Single submitter Inborn genetic diseases ⚠
- p.Asn81Asp Single submitter ⚠
- p.Asp132Gly Single submitter Inborn genetic diseases ⚠
- p.Asp144Val Single submitter ⚠
- p.Asp279Glu Single submitter ⚠
- p.Asp284Asn Single submitter ⚠
- p.Asp304_Thr308delinsAla Single submitter hereditary angioedema type 1
- p.Asp304His Single submitter ⚠
- p.Asp304Val Single submitter ⚠
- p.Asp420Asn Single submitter ⚠
- p.Asp420Gly Single submitter ⚠
- p.Asp435Asn Single submitter Inborn genetic diseases ⚠
- p.Asp435Gly Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Cys123Ser Single submitter ⚠
- p.Cys130Phe Single submitter ⚠
- p.Cys130Trp Single submitter ⚠
- p.Gln108Glu Single submitter ⚠
- p.Gln116His Single submitter ⚠
- p.Gln223Glu Single submitter Inborn genetic diseases ⚠
- p.Gln32Glu Single submitter ⚠
- p.Gln38Glu Single submitter ⚠
- p.Gln442Glu Single submitter hereditary angioedema type 1 ⚠
- p.Gln484Glu Single submitter ⚠
- p.Gln89_Thr92del Single submitter
- p.Glu187Lys Single submitter ⚠
- p.Glu194Gly Single submitter ⚠
- p.Glu260Gly Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu414Gly Single submitter ⚠
- p.Glu455_Ala458del Single submitter
- p.Glu93Lys Single submitter ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly41Cys Single submitter ⚠
- p.His136Arg Single submitter ⚠
- p.His207Leu Single submitter ⚠
- p.His351Gln Single submitter Inborn genetic diseases ⚠
- p.His351Tyr Single submitter ⚠
- p.His365Tyr Single submitter ⚠
- p.Ile100_Thr103del Single submitter
- p.Ile174Val Single submitter ⚠
- p.Ile224Phe Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Ile382Phe Single submitter ⚠
- p.Ile401Phe Single submitter ⚠
- p.Ile462Val Single submitter ⚠
- p.Leu109Phe Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu142Ser Single submitter ⚠
- p.Leu153Val Single submitter Inborn genetic diseases ⚠
- p.Leu15dup Single submitter
- p.Leu183= Single submitter
- p.Leu193Val Single submitter Inborn genetic diseases ⚠
- p.Leu197Phe Single submitter ⚠
- p.Leu261Phe Single submitter ⚠
- p.Leu277Val Single submitter hereditary angioedema type 1 ⚠
- p.Leu290Phe Single submitter ⚠
- p.Leu349Arg Single submitter ⚠
- p.Leu374Pro Single submitter ⚠
- p.Leu37Ser Single submitter ⚠
- p.Leu395Phe Single submitter ⚠
- p.Leu395Val Single submitter ⚠
- p.Leu396Gln Single submitter ⚠
- p.Leu427Val Single submitter ⚠
- p.Leu481Arg Single submitter ⚠
- p.Lys161Arg Single submitter ⚠
- p.Lys216Ile Single submitter ⚠
- p.Lys268Arg Single submitter ⚠
- p.Lys273del Single submitter
- p.Lys307Asn Single submitter ⚠
- p.Lys328Asn Single submitter ⚠
- p.Lys329Asn Single submitter ⚠
- p.Lys487Arg Single submitter ⚠
- p.Met167Thr Single submitter ⚠
- p.Met310Thr Single submitter ⚠
- p.Met388Leu Single submitter Inborn genetic diseases ⚠
- p.Met413Val Single submitter ⚠
- p.Met492Leu Single submitter ⚠
- p.Met492Val Single submitter ⚠
- p.Phe122Leu Single submitter ⚠
- p.Phe236Cys Single submitter ⚠
- p.Phe418Tyr Single submitter ⚠
- p.Phe419Leu Single submitter ⚠
- p.Phe421Ile Single submitter ⚠
- p.Phe488Ile Single submitter ⚠
- p.Pro117_Thr118insProThrAspSerProThrGlnPro Single submitter
- p.Pro117Leu Single submitter ⚠
- p.Pro282Ser Single submitter ⚠
- p.Pro312His Single submitter ⚠
- p.Pro312Ser Single submitter ⚠
- p.Pro34Ala Single submitter ⚠
- p.Pro360Ser Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro399His Single submitter ⚠
- p.Pro399Thr Single submitter ⚠
- p.Pro489Ala Single submitter
- p.Pro90Ser Single submitter Inborn genetic diseases ⚠
- p.Pro94Thr Single submitter Inborn genetic diseases ⚠
- p.Pro98Leu Single submitter hereditary angioedema type 1 ⚠
- p.Ser113Pro Single submitter ⚠
- p.Ser131Cys Single submitter ⚠
- p.Ser135Asn Single submitter ⚠
- p.Ser150Pro Single submitter ⚠
- p.Ser158Ala Single submitter ⚠
- p.Ser158Leu Single submitter ⚠
- p.Ser158Pro Single submitter ⚠
- p.Ser173Asn Single submitter ⚠
- p.Ser222Phe Single submitter ⚠
- p.Ser22Leu Single submitter ⚠
- p.Ser247del Single submitter
- p.Ser247Thr Single submitter Inborn genetic diseases ⚠
- p.Ser280Cys Single submitter ⚠
- p.Ser29Cys Single submitter ⚠
- p.Ser318Leu Single submitter ⚠
- p.Ser350Phe Single submitter
- p.Ser389Phe Single submitter ⚠
- p.Ser63Cys Single submitter ⚠
- p.Ser63Phe Single submitter ⚠
- p.Ser64Gly Single submitter ⚠
- p.Thr106_Thr107insIleGlnProThrGlnProThr Single submitter
- p.Thr119Ser Single submitter Inborn genetic diseases ⚠
- p.Thr179Ser Single submitter ⚠
- p.Thr219Ile Single submitter angioedema ⚠
- p.Thr219Pro Single submitter ⚠
- p.Thr235Asn Single submitter Inborn genetic diseases ⚠
- p.Thr242Ile Single submitter ⚠
- p.Thr264Ser Single submitter ⚠
- p.Thr270Ala Single submitter ⚠
- p.Thr394Pro Single submitter ⚠
- p.Thr445Ala Single submitter ⚠
- p.Thr47Ala Single submitter ⚠
- p.Thr92_Thr99del Single submitter
- p.Thr96Pro Single submitter Inborn genetic diseases ⚠
- p.Trp299Ser Single submitter ⚠
- p.Tyr330Asp Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val163Leu Single submitter Inborn genetic diseases ⚠
- p.Val319Asp Single submitter Inborn genetic diseases ⚠
- p.Val344Met Single submitter ⚠
- p.Val356Leu Single submitter Inborn genetic diseases ⚠
- p.Val359Ala Single submitter ⚠
- p.Val403Met Single submitter ⚠
- p.Val438Ala Single submitter ⚠
- p.Val45= Single submitter hereditary angioedema type 1
- p.Val454Leu Single submitter ⚠
- p.Val45Ala Single submitter ⚠
- p.Val490Asp Single submitter ⚠
- p.Val490Leu Single submitter ⚠
- p.Val56Ile Single submitter ⚠
- c.1249+5G>C No assertion criteria angioedema
- p.Cys123Trp No assertion criteria angioedema ⚠
- p.Pro34Thr No assertion criteria hereditary angioedema with C1Inh deficiency ⚠
- p.Val446Glu No assertion criteria SERPING1-related disorder ⚠